title: A novel homozygous BEST1 mutation correlates with complex ocular phenotypes.
authors.affiliation: Ningxia Eye Hospital, Ningxia People's Hospital, Ningxia, China.
authors.forename: Xunlun
authors.initials: X
authors.lastname: Sheng
authors.forename: Xuejuan
authors.initials: X
authors.lastname: Chen
authors.forename: Kanxing
authors.initials: K
authors.lastname: Zhao
authors.forename: Yani
authors.initials: Y
authors.lastname: Liu
authors.forename: Douglas
authors.initials: D
authors.lastname: Vollrath
authors.forename: Chen
authors.initials: C
authors.lastname: Zhao
mesh_terms: D000328:Adult; D000075002:Bestrophins; D002386:Cataract / Q000235:genetics* / Q000473:pathology; D018118:Chloride Channels / Q000235:genetics*; D003241:Consanguinity; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D015812:Glaucoma, Angle-Closure / Q000235:genetics* / Q000473:pathology; D006068:Gonioscopy; D006801:Humans; D006956:Hyperopia / Q000235:genetics* / Q000473:pathology; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis / Q000235:genetics*
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins